ArticleEuropean journal of human genetics : EJHG2018
Genetics of hearing loss in the Arab population of Northern Israel.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 26 citations in OpenAlex.
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.Scientific reports · 2026Article
- Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.Scientific reports · 2024Article
- Prenatal Diagnosis and Pregnancy Termination in Jewish and Muslim Women with a Deaf Child in Israel.Children (Basel, Switzerland) · 2023Article
- Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.BMC medical genomics · 2022Article
- Molecular diagnose of a large hearing loss population from China by targeted genome sequencing.Journal of human genetics · 2022Article
- In utero origin of myelofibrosis presenting in adult monozygotic twins.Nature medicine · 2022Article
- Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.BMC medical genomics · 2022Article
- TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.Scientific reports · 2021Article
- Article
- Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss.Molecular biology reports · 2020Article
- Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.Clinical genetics · 2020Article
- The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis.Iranian journal of basic medical sciences · 2020Review
- Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness.Molecular genetics & genomic medicine · 2020Article
- A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.Frontiers in cellular neuroscience · 2020Article
- Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.BioMed research international · 2020Article
- Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations inNeural plasticity · 2020Article
- Article
- Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.BMC medical genetics · 2019Article
- Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.BMC medical genetics · 2019Article
- Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by anHuman genome variation · 2019Article
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
Abstract
For multiple generations, much of the Arab population of Northern Israel has lived in communities with consanguineous marriages and large families. These communities have been particularly cooperative and informative for understanding the genetics of recessive traits. We studied the genetics of hearing loss in this population, evaluating 168 families from 46 different villages. All families were screened for founder variants by Sanger sequencing and 13 families were further evaluated by sequencing all known genes for hearing loss using our targeted gene panel HEar-Seq. Deafness in 34 of 168 families (20%) was explained by founder variants in GJB2, SLC26A4, or OTOF. In 6 of 13 families (46%) evaluated using HEar-Seq, deafness was explained by damaging alleles of SLC26A4, MYO15A, OTOG, LOXHD1, and TBC1D24. In some genes critical to hearing, it is particularly difficult to interpret variants that might affect splicing, because the genes are not expressed in accessible tissue. To address this problem for possible splice-altering variants of MYO15A, we evaluated minigenes transfected into HEK293 cells. Results revealed exon skipping in the message of MYO15A c.9083+6T>A, and intron retention in the message of MYO15A c.8340G>A, in each case leading to a premature stop and consistent with co-segregation of homozygosity for each variant with hearing loss. The profile of genetics of hearing loss in this population reflects the genetic heterogeneity of hearing loss and the usefulness of synthetic technologies to evaluate potentially causal variants in genes not expressed in accessible tissues.
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